ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.252G>A (p.Trp84Ter)

dbSNP: rs267601384
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000998935 SCV001155295 likely pathogenic not provided 2016-06-01 criteria provided, single submitter clinical testing
St. Anna Children's Cancer Research Institute (CCRI) RCV003114237 SCV003798489 pathogenic Cortical dysplasia-focal epilepsy syndrome 2023-02-08 criteria provided, single submitter research Variant one AGMC classification: PVS1, PM2, PM3

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